A Killing Disease Epidemic Among Displaced Sudanese Population Identified as Visceral Leishmaniasis.

A fatal disease epidemic affected the Bentiu area in southern Sudan and led to a mass migration of the Nuer tribe searching for treatment. The initially available information revealed a high mortality rate due to a possible occurrence of tuberculosis, malaria, enteric fever or visceral leishmaniasis (VL). Serological screening of 53 of the most severely affected patients in an enzyme-linked immunosorbent assay (ELISA) or an improved direct agglutination test (DAT) revealed positivity for VL. In 39 of those patients, diagnosis was confirmed by identification of Leishmania donovani amastigotes in lymph node or bone-marrow aspirates. In a total of 2714 patients observed, 1195 (44.0%) had clinical symptoms suggesting VL: DAT positive titers (1:3200-greater than or equal to 1:12800) were obtained in 654 (24.1%), of whom 325 were confirmed parasitologically. Forty-two VL cases died before or during treatment, giving a mortality rate of 6.4%. Among the intercurrent infections diagnosed in the VL population (654), respiratory involvements (31.7%) and malaria (10.7%) were most prevalent. With the exception of four (0.6%), all other VL patients (509) responded readily to sodium stibogluconate. The factors initiating the outbreak are discussed. Malnutrition and nomadic movements to potential VL endemic areas appeared to be the most important. HIV infection as a possible predisposition seemed remote considering the clinical and epidemiological similarity to VL occurring in East Africa, adequate humoral response in DAT, and immediate positive response to specific anti-Leishmania chemotherapy

Classification of sedimentary and igneous rocks by laser induced breakdown spectroscopy and nanoparticle-enhanced laser induced breakdown spectroscopy combined with principal component analysis and graph theory

In this work, results are presented on the application of standard LIBS and Nanoparticle-Enhanced LIBS (NELIBS) to the classification of rocks (igneous and sedimentary). The classification of the spectra obtained with the two methods was performed using Principal Component Analysis (PCA) and Graph Theory method. The results obtained confirmed the advantages of the LIBS technique in geological applications, showing that excellent classification of the rocks analyzed (more than 99% of the spectra correctly classified) can be obtained using standard LIBS coupled to Graph Theory analysis, while NELIBS spectra, analyzed with the same technique, provide acceptable results, but with 10% of the spectra not classified. These findings are particularly interesting given the application of the LIBS technique in investigating natural samples having porous and/or rough surfaces

National policy-makers speak out: are researchers giving them what they need?

The objective of this empirical study was to understand the perspectives and attitudes of policy-makers towards the use and impact of research in the health sector in low- and middle-income countries. The study used data from 83 semi-structured, in-depth interviews conducted with purposively selected policy-makers at the national level in Argentina, Egypt, Iran, Malawi, Oman and Singapore. The interviews were structured around an interview guide developed based on existing literature and in consultation with all six country investigators. Transcripts were processed using a thematic-analysis approach. Policy-makers interviewed for this study were unequivocal in their support for health research and the high value they attribute to it. However, they stated that there were structural and informal barriers to research contributing to policy processes, to the contribution research makes to knowledge generally, and to the use of research in health decision-making specifically. Major findings regarding barriers to evidence-based policy-making included poor communication and dissemination, lack of technical capacity in policy processes, as well as the influence of the political context. Policy-makers had a variable understanding of economic analysis, equity and burden of disease measures, and were vague in terms of their use in national decisions. Policy-maker recommendations regarding strategies for facilitating the uptake of research into policy included improving the technical capacity of policy-makers, better packaging of research results, use of social networks, and establishment of fora and clearinghouse functions to help assist in evidence-based policy-makin

A novel BRCA-1 mutation in Arab kindred from east Jerusalem with breast and ovarian cancer

BACKGROUND: The incidence of breast cancer (BC) in Arab women is lower compared to the incidence in the Jewish population in Israel; still, it is the most common malignancy among Arab women. There is a steep rise in breast cancer incidence in the Arab population in Israel over the last 10 years that can be attributed to life style changes. But, the younger age of BC onset in Arab women compared with that of the Jewish population is suggestive of a genetic component in BC occurrence in that population. METHODS: We studied the family history of 31 women of Palestinian Arab (PA) origin affected with breast (n = 28), ovarian (n = 3) cancer. We used denaturing high performance liquid chromatography (DHPLC) to screen for mutations of BRCA1/2 in 4 women with a personal and family history highly suggestive of genetic predisposition. RESULTS: A novel BRCA1 mutation, E1373X in exon 12, was found in a patient affected with ovarian cancer. Four of her family members, 3 BC patients and a healthy individual were consequently also found to carry this mutation. Of the other 27 patients, which were screened for this specific mutation none was found to carry it. CONCLUSION: We found a novel BRCA1 mutation in a family of PA origin with a history highly compatible with BRCA1 phenotype. This mutation was not found in additional 30 PA women affected with BC or OC. Therefore full BRCA1/2 screening should be offered to patients with characteristic family history. The significance of the novel BRCA1 mutation we identified should be studied in larger population. However, it is likely that the E1373X mutation is not a founder frequent mutation in the PA population

Design, Development and Evaluation of rK28-Based Point-of-Care Tests for Improving Rapid Diagnosis of Visceral Leishmaniasis

Visceral Leishmaniasis caused by Leishmania donovani is endemic in several parts of South Asia, East Africa, South and Central America. It is a vector-borne disease transmitted by bites of infected sand flies and often fatal in the absence of chemotherapy. Timely diagnosis is an essential first step in providing proper patient care and in controlling transmission. VL diagnosis in East Africa and Latin America are currently based on microscopic confirmation of parasites in tissue aspirates. The Kalazar Detect rapid test is widely used as a confirmatory test in India with very high accuracy, but sensitivity issues have severely limited its usefulness in the African sub-continent. Direct Agglutination Test is another confirmatory test used widely in East Africa and offers high sensitivity but is not field-friendly. We report on the design of a novel synthetic fusion protein capable of sequestering antibodies against three different Leishmania donovani antigens and the development of point-of-care tests for improving VL diagnosis. We believe the ease of use of these rapid tests and their high accuracy in detecting VL cases could make them useful as a first-line test, thereby eliminating the need for painful biopsies and ensuring better patient care

Hereditary breast cancer in Middle Eastern and North African (MENA) populations: identification of novel, recurrent and founder BRCA1 mutations in the Tunisian population

Germ-line mutations in BRCA1 breast cancer susceptibility gene account for a large proportion of hereditary breast cancer families and show considerable ethnic and geographical variations. The contribution of BRCA1 mutations to hereditary breast cancer has not yet been thoroughly investigated in Middle Eastern and North African populations. In this study, 16 Tunisian high-risk breast cancer families were screened for germline mutations in the entire BRCA1 coding region and exon–intron boundaries using direct sequencing. Six families were found to carry BRCA1 mutations with a prevalence of 37.5%. Four different deleterious mutations were detected. Three truncating mutations were previously described: c.798_799delTT (916 delTT), c.3331_3334delCAAG (3450 delCAAG), c.5266dupC (5382 insC) and one splice site mutation which seems to be specific to the Tunisian population: c.212 + 2insG (IVS5 + 2insG). We also identified 15 variants of unknown clinical significance. The c.798_799delTT mutation occurred at an 18% frequency and was shared by three apparently unrelated families. Analyzing five microsatellite markers in and flanking the BRCA1 locus showed a common haplotype associated with this mutation. This suggests that the c.798_799delTT mutation is a Tunisian founder mutation. Our findings indicate that the Tunisian population has a spectrum of prevalent BRCA1 mutations, some of which appear as recurrent and founding mutations

Diagnostic Accuracy of the Leishmania OligoC-TesT and NASBA-Oligochromatography for Diagnosis of Leishmaniasis in Sudan

The leishmaniases are a group of vector-borne diseases caused by protozoan parasites of the genus Leishmania. The parasites are transmitted by phlebotomine sand flies and can cause, depending on the infecting species, three clinical manifestations of leishmaniasis: visceral leishmaniasis (VL), post kala-azar dermal leishmaniasis (PKDL) and cutaneous leishmaniasis (CL) including the mucocutaneous form. VL, PKDL as well as CL are endemic in several parts of Sudan, and VL especially represents a major health problem in this country. Molecular tests such as the polymerase chain reaction (PCR) or nucleic acid sequence based assay (NASBA) are powerful techniques for accurate detection of the parasite in clinical specimens, but broad use is hampered by their complexity and lack of standardisation. Recently, the Leishmania OligoC-TesT and NASBA-Oligochromatography were developed as simplified and standardised PCR and NASBA formats. In this study, both tests were phase II evaluated for diagnosis of VL, PKDL and CL in Sudan